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Li-Fraumeni syndrome

3 OMIM references -
2 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Atypical teratoid tumor

1 OMIM reference -
1 associated gene
16 signs/symptoms

Li-Fraumeni syndrome

Atypical teratoid tumor

CHEK2	(UniProt - OMIM)		SMARCB1	(UniProt - OMIM)
TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.88)	SMARCB1

Citations in the biomedical literature:

Li-Fraumeni syndrome		Atypical teratoid tumor

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 3 OMIM references - 1 MeSH reference: D016864		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer

Li-Fraumeni syndrome		Atypical teratoid tumor
	Very frequent - Acute leukemia - Autosomal dominant inheritance - Bone / osseous neoplasm / tumor / carcinoma / cancer - Breast neoplasm / tumor / carcinoma / cancer - Colon neoplasm / tumor / carcinoma / cancer - Cortical adrenal neoplasm / tumor / carcinoma / cancer - Lymphoma - Neoplasms / tumors - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Sarcoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma Occasional - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Melanoma - Oropharyngeal neoplasm / tumor / carcinoma / cancer		Very frequent - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Nausea / vomiting / regurgitation / merycism / hyperemesis Frequent - Ataxia / incoordination / trouble of the equilibrium - Early death / lethality - Facial pain / cephalalgia / migraine - Hemiplegia / diplegia / hemiparesia / limb palsy - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Muscle weakness / flaccidity - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sleep and vigilance disorders Occasional - Acute palsy - Cranial nerves palsy - Intracranial / cerebral calcifications